Incidental Mutation 'IGL02973:Lipe'
ID 365894
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lipe
Ensembl Gene ENSMUSG00000003123
Gene Name lipase, hormone sensitive
Synonyms HSL, 4933403G17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02973
Quality Score
Status
Chromosome 7
Chromosomal Location 25078952-25097911 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25083057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 740 (N740S)
Ref Sequence ENSEMBL: ENSMUSP00000123485 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003207] [ENSMUST00000054301] [ENSMUST00000149349] [ENSMUST00000205698] [ENSMUST00000206861] [ENSMUST00000205923]
AlphaFold P54310
Predicted Effect possibly damaging
Transcript: ENSMUST00000003207
AA Change: N470S

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000003207
Gene: ENSMUSG00000003123
AA Change: N470S

DomainStartEndE-ValueType
Pfam:HSL_N 44 358 4.6e-148 PFAM
Pfam:DUF2424 345 504 1.1e-8 PFAM
Pfam:Abhydrolase_3 388 548 3e-36 PFAM
low complexity region 611 626 N/A INTRINSIC
Pfam:Abhydrolase_3 684 771 6.4e-13 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000054301
AA Change: N427S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050935
Gene: ENSMUSG00000003123
AA Change: N427S

DomainStartEndE-ValueType
Pfam:HSL_N 1 315 1.4e-148 PFAM
Pfam:DUF2424 302 461 1.5e-8 PFAM
Pfam:Abhydrolase_3 345 505 5.2e-36 PFAM
low complexity region 568 583 N/A INTRINSIC
Pfam:Abhydrolase_3 641 728 1.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000066316
Predicted Effect probably damaging
Transcript: ENSMUST00000149349
AA Change: N740S

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000123485
Gene: ENSMUSG00000003123
AA Change: N740S

DomainStartEndE-ValueType
low complexity region 74 90 N/A INTRINSIC
low complexity region 152 167 N/A INTRINSIC
low complexity region 250 261 N/A INTRINSIC
Pfam:HSL_N 319 627 1.2e-116 PFAM
Pfam:DUF2424 616 774 1.2e-8 PFAM
Pfam:Abhydrolase_3 658 817 1.9e-34 PFAM
low complexity region 881 896 N/A INTRINSIC
Pfam:Abhydrolase_3 951 1041 2.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205787
Predicted Effect possibly damaging
Transcript: ENSMUST00000206861
AA Change: N427S

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000205923
AA Change: I167V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206588
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206436
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations of this locus result in abnormal lipid homeostasis and, in some lines, defects in spermatogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(9) : Targeted, knock-out(2) Targeted, other(5) Gene trapped(2)

Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,573,053 (GRCm39) L193P probably benign Het
Ago2 A T 15: 72,995,314 (GRCm39) probably benign Het
Ankrd26 A G 6: 118,500,511 (GRCm39) S987P probably damaging Het
Ap2a2 T C 7: 141,211,277 (GRCm39) F938L possibly damaging Het
Arhgap35 A G 7: 16,296,803 (GRCm39) V754A possibly damaging Het
Atp10b A T 11: 43,088,336 (GRCm39) N314I probably damaging Het
Atp5f1a T C 18: 77,867,849 (GRCm39) V291A probably damaging Het
Ccm2 C A 11: 6,534,544 (GRCm39) P19T probably damaging Het
Cdc5l C A 17: 45,715,573 (GRCm39) A680S probably benign Het
Cds1 A G 5: 101,960,376 (GRCm39) T276A probably damaging Het
Cit A G 5: 116,144,058 (GRCm39) R1976G possibly damaging Het
Col6a5 T C 9: 105,803,020 (GRCm39) D1315G unknown Het
Emilin1 T G 5: 31,078,007 (GRCm39) L922R probably damaging Het
Fank1 T C 7: 133,478,578 (GRCm39) L213P probably damaging Het
Foxc2 T C 8: 121,844,788 (GRCm39) S479P probably benign Het
Golgb1 G A 16: 36,732,442 (GRCm39) R563H possibly damaging Het
Hoxb13 A G 11: 96,085,669 (GRCm39) Y134C probably damaging Het
Krtap4-16 A T 11: 99,742,167 (GRCm39) C78S possibly damaging Het
Lars1 C T 18: 42,347,824 (GRCm39) probably null Het
Mbd1 C T 18: 74,408,498 (GRCm39) probably benign Het
Mbd5 A G 2: 49,203,721 (GRCm39) D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 (GRCm39) Y338H probably damaging Het
Pdgfrl A G 8: 41,438,631 (GRCm39) D189G probably damaging Het
Pira12 T C 7: 3,900,239 (GRCm39) Y121C probably damaging Het
Plxnc1 T C 10: 94,646,546 (GRCm39) N1293S probably damaging Het
Ppm1e C A 11: 87,131,488 (GRCm39) A302S probably damaging Het
Rassf8 A G 6: 145,762,916 (GRCm39) probably benign Het
Rttn T C 18: 88,990,618 (GRCm39) W52R probably damaging Het
Skint8 T C 4: 111,796,790 (GRCm39) V298A probably benign Het
Tulp1 A T 17: 28,577,516 (GRCm39) probably benign Het
Unc5c T A 3: 141,494,651 (GRCm39) D321E probably benign Het
Usp16 G A 16: 87,276,627 (GRCm39) C654Y probably damaging Het
Vwce G A 19: 10,632,764 (GRCm39) W575* probably null Het
Wdr89 T G 12: 75,679,873 (GRCm39) D127A probably damaging Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp942 A G 17: 22,151,972 (GRCm39) probably null Het
Other mutations in Lipe
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Lipe APN 7 25,082,977 (GRCm39) missense probably damaging 1.00
IGL00517:Lipe APN 7 25,087,985 (GRCm39) splice site probably null
IGL00817:Lipe APN 7 25,087,874 (GRCm39) missense probably damaging 1.00
IGL01459:Lipe APN 7 25,082,967 (GRCm39) missense probably damaging 1.00
IGL01946:Lipe APN 7 25,082,701 (GRCm39) missense possibly damaging 0.90
IGL02931:Lipe APN 7 25,082,760 (GRCm39) splice site probably benign
IGL03091:Lipe APN 7 25,080,180 (GRCm39) missense probably damaging 1.00
fett UTSW 7 25,088,007 (GRCm39) missense probably benign
grassa UTSW 7 25,084,750 (GRCm39) missense probably damaging 0.99
reservoir UTSW 7 25,079,568 (GRCm39) missense probably damaging 1.00
3-1:Lipe UTSW 7 25,097,245 (GRCm39) missense probably damaging 0.97
PIT4243001:Lipe UTSW 7 25,094,971 (GRCm39) missense probably benign
R0062:Lipe UTSW 7 25,097,874 (GRCm39) missense possibly damaging 0.46
R0062:Lipe UTSW 7 25,097,874 (GRCm39) missense possibly damaging 0.46
R0432:Lipe UTSW 7 25,097,913 (GRCm39) missense probably benign 0.00
R0528:Lipe UTSW 7 25,097,901 (GRCm39) missense possibly damaging 0.92
R0534:Lipe UTSW 7 25,087,611 (GRCm39) missense possibly damaging 0.66
R1487:Lipe UTSW 7 25,084,240 (GRCm39) missense possibly damaging 0.47
R1502:Lipe UTSW 7 25,097,572 (GRCm39) missense possibly damaging 0.66
R1606:Lipe UTSW 7 25,087,569 (GRCm39) missense probably damaging 1.00
R1713:Lipe UTSW 7 25,084,750 (GRCm39) missense probably damaging 0.99
R2147:Lipe UTSW 7 25,087,946 (GRCm39) missense probably benign 0.01
R3031:Lipe UTSW 7 25,084,320 (GRCm39) missense possibly damaging 0.65
R3110:Lipe UTSW 7 25,097,848 (GRCm39) missense probably benign
R3112:Lipe UTSW 7 25,097,848 (GRCm39) missense probably benign
R3792:Lipe UTSW 7 25,097,045 (GRCm39) missense possibly damaging 0.82
R4453:Lipe UTSW 7 25,097,115 (GRCm39) missense probably damaging 0.99
R4582:Lipe UTSW 7 25,097,127 (GRCm39) missense probably benign
R4816:Lipe UTSW 7 25,079,568 (GRCm39) missense probably damaging 1.00
R5639:Lipe UTSW 7 25,082,750 (GRCm39) missense probably benign 0.00
R5653:Lipe UTSW 7 25,097,833 (GRCm39) missense probably benign 0.08
R6322:Lipe UTSW 7 25,079,961 (GRCm39) missense probably damaging 1.00
R6575:Lipe UTSW 7 25,082,749 (GRCm39) missense probably benign 0.03
R7065:Lipe UTSW 7 25,084,603 (GRCm39) critical splice donor site probably null
R7250:Lipe UTSW 7 25,088,085 (GRCm39) start gained probably benign
R7485:Lipe UTSW 7 25,080,036 (GRCm39) missense probably benign 0.01
R7636:Lipe UTSW 7 25,088,042 (GRCm39) missense probably benign 0.42
R8447:Lipe UTSW 7 25,080,017 (GRCm39) missense probably damaging 1.00
R8754:Lipe UTSW 7 25,088,007 (GRCm39) missense probably benign
R9025:Lipe UTSW 7 25,083,923 (GRCm39) missense probably damaging 0.99
R9399:Lipe UTSW 7 25,097,227 (GRCm39) missense probably benign 0.35
R9594:Lipe UTSW 7 25,098,128 (GRCm39) unclassified probably benign
R9615:Lipe UTSW 7 25,097,326 (GRCm39) nonsense probably null
Posted On 2015-12-18